Canonical Allele Identifier: CA017556

Gene: LMNA

Linked Data

• ClinVar Variation Id: 66853
• ClinVar RCV Id: RCV000057335 ; RCV000693979 ; RCV000150954 ; RCV002490641 ; RCV001196083
• dbSNP Id: rs267607592
• MyVariant Identifiers: chr1:g.156107024G>A (hg19) ; chr1:g.156137233G>A (hg38)
• PubMed: PMID:15678000 ; PMID:19446900

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156137233G>A , CM000663.2:g.156137233G>A	GRCh38
NC_000001.10:g.156107024G>A , CM000663.1:g.156107024G>A	GRCh37
NC_000001.9:g.154373648G>A	NCBI36
NG_008692.2:g.59661G>A , LRG_254:g.59661G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.1050+1G>A	ENSP00000426535.3:n.1050+1G>A
ENST00000459904.2:n.857G>A
ENST00000498722.3:n.840+1G>A
ENST00000682650.1:c.1608+1G>A	ENSP00000506904.1:n.1608+1G>A
ENST00000683032.1:c.1608+1G>A	ENSP00000506771.1:n.1608+1G>A
ENST00000684195.1:c.1579+30G>A	ENSP00000508220.1:n.1579+30G>A
ENST00000361308.9:c.1608+1G>A	ENSP00000355292.6:n.1608+1G>A
ENST00000368300.9:c.1608+1G>A MANE Select	ENSP00000357283.4:n.1608+1G>A
ENST00000496738.6:n.2067+1G>A
ENST00000674518.1:c.*958+1G>A	ENSP00000502261.1:n.*958+1G>A
ENST00000674600.1:c.*1407+1G>A	ENSP00000501666.1:n.*1407+1G>A
ENST00000674720.1:c.*170+1G>A	ENSP00000502798.1:n.*170+1G>A
ENST00000675431.1:n.1301+1G>A
ENST00000675455.1:c.*1408+1G>A	ENSP00000501795.1:n.*1408+1G>A
ENST00000675667.1:c.1608+1G>A	ENSP00000501803.1:n.1608+1G>A
ENST00000675874.1:c.*1079+1G>A	ENSP00000501851.1:n.*1079+1G>A
ENST00000675881.1:c.*619+1G>A	ENSP00000501670.1:n.*619+1G>A
ENST00000675939.1:c.1608+1G>A	ENSP00000502256.1:n.1608+1G>A
ENST00000675989.1:n.2467+1G>A
ENST00000676208.1:c.*711+1G>A	ENSP00000502468.1:n.*711+1G>A
ENST00000676283.1:n.1984G>A
ENST00000676385.2:c.1608+1G>A	ENSP00000502091.1:n.1608+1G>A
ENST00000676434.1:c.*619+1G>A	ENSP00000501648.1:n.*619+1G>A
ENST00000677389.1:c.1608+1G>A MANE Plus Clinical	ENSP00000503633.1:n.1608+1G>A
ENST00000347559.6:c.1608+1G>A	ENSP00000292304.3:n.1608+1G>A
ENST00000361308.8:c.1353+1G>A	ENSP00000355292.5:n.1353+1G>A
ENST00000368297.5:c.1365+1G>A	ENSP00000357280.1:n.1365+1G>A
ENST00000368298.2:n.1441G>A
ENST00000368299.7:c.1608+1G>A	ENSP00000357282.3:n.1608+1G>A
ENST00000368300.8:c.1608+1G>A	ENSP00000357283.4:n.1608+1G>A
ENST00000368301.6:c.1608+1G>A	ENSP00000357284.2:n.1608+1G>A
ENST00000448611.6:c.1272+1G>A	ENSP00000395597.2:n.1272+1G>A
ENST00000459904.1:n.857G>A
ENST00000473598.6:c.1311+1G>A	ENSP00000421821.1:n.1311+1G>A
ENST00000496738.5:n.1077+1G>A
ENST00000498722.2:n.840+1G>A
ENST00000508500.1:c.486+1G>A	ENSP00000424977.1:n.486+1G>A
NM_001257374.2:c.1272+1G>A	NP_001244303.1:n.1272+1G>A
NM_001282624.1:c.1365+1G>A	NP_001269553.1:n.1365+1G>A
NM_001282625.1:c.1608+1G>A	NP_001269554.1:n.1608+1G>A
NM_001282626.1:c.1608+1G>A	NP_001269555.1:n.1608+1G>A
NM_005572.3:c.1608+1G>A , LRG_254t1:c.1608+1G>A	NP_005563.1:n.1608+1G>A
NM_170707.3:c.1608+1G>A	NP_733821.1:n.1608+1G>A
NM_170708.3:c.1608+1G>A	NP_733822.1:n.1608+1G>A
XM_011509533.1:c.1272+1G>A	XP_011507835.1:n.1272+1G>A
XM_011509534.1:c.984+1G>A	XP_011507836.1:n.984+1G>A
XR_921781.1:n.1897+1G>A
XM_011509534.2:c.984+1G>A	XP_011507836.1:n.984+1G>A
XR_921781.2:n.1895+1G>A
NM_170707.4:c.1608+1G>A MANE Select	NP_733821.1:n.1608+1G>A
NM_001257374.3:c.1272+1G>A	NP_001244303.1:n.1272+1G>A
NM_001282626.2:c.1608+1G>A	NP_001269555.1:n.1608+1G>A
NM_001282624.2:c.1365+1G>A	NP_001269553.1:n.1365+1G>A
NM_001282625.2:c.1608+1G>A	NP_001269554.1:n.1608+1G>A
NM_005572.4:c.1608+1G>A MANE Plus Clinical	NP_005563.1:n.1608+1G>A
NM_170708.4:c.1608+1G>A	NP_733822.1:n.1608+1G>A